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Mendeliome

Gene: ABCA12

Green List (high evidence)

ABCA12 (ATP binding cassette subfamily A member 12)
EnsemblGeneIds (GRCh38): ENSG00000144452
EnsemblGeneIds (GRCh37): ENSG00000144452
OMIM: 607800, Gene2Phenotype
ABCA12 is in 8 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Over 50 families reported, severity may correlate with consequence of mutations with bi-allelic truncating variants presenting with harlequin ichthyosis, and missense variants causing milder phenotypes.
Created: 29 Aug 2020, 8:02 a.m. | Last Modified: 29 Aug 2020, 8:02 a.m.
Panel Version: 0.4009

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ichthyosis, congenital, autosomal recessive 4A (MIM#601277); Ichthyosis, congenital, autosomal recessive 4B (harlequin) (MIM#242500)

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Ichthyosis, congenital, autosomal recessive 4A (MIM#601277)
  • Ichthyosis, congenital, autosomal recessive 4B (harlequin) (MIM#242500)
OMIM
607800
Clinvar variants
Variants in ABCA12
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Aug 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: abca12 has been classified as Green List (High Evidence).

29 Aug 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ABCA12 were changed from to Ichthyosis, congenital, autosomal recessive 4A (MIM#601277); Ichthyosis, congenital, autosomal recessive 4B (harlequin) (MIM#242500)

29 Aug 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ABCA12 were set to

29 Aug 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: ABCA12 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ABCA12 was added gene: ABCA12 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ABCA12 was set to Unknown